Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

@article{Gregersen2001MutationAI,
  title={Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.},
  author={N. Gregersen and Brage S Andresen and Morten Juhl Corydon and Thomas J Corydon and Rikke K. J. Olsen and Lars Bolund and Peter Bross},
  journal={Human mutation},
  year={2001},
  volume={18 3},
  pages={169-89}
}
Mutation analysis of metabolic disorders, such as the fatty acid oxidation defects, offers an additional, and often superior, tool for specific diagnosis compared to traditional enzymatic assays. With the advancement of the structural part of the Human Genome Project and the creation of mutation databases, procedures for convenient and reliable genetic analyses are being developed. The most straightforward application of mutation analysis is to specific diagnoses in suspected patients… CONTINUE READING
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